rs780583917
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 4 | hypophosphatasia |
| (A;C) | 3 | carrier of a hypophosphatasia allele |
| (C;C) | 0 | normal |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 21563213 |
| Gene | ALPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs780583917 |
| dbSNP (classic) | rs780583917 |
| ClinGen | rs780583917 |
| ebi | rs780583917 |
| HLI | rs780583917 |
| Exac | rs780583917 |
| Gnomad | rs780583917 |
| Varsome | rs780583917 |
| LitVar | rs780583917 |
| Map | rs780583917 |
| PheGenI | rs780583917 |
| Biobank | rs780583917 |
| 1000 genomes | rs780583917 |
| hgdp | rs780583917 |
| ensembl | rs780583917 |
| geneview | rs780583917 |
| scholar | rs780583917 |
| rs780583917 | |
| pharmgkb | rs780583917 |
| gwascentral | rs780583917 |
| openSNP | rs780583917 |
| 23andMe | rs780583917 |
| SNPshot | rs780583917 |
| SNPdbe | rs780583917 |
| MSV3d | rs780583917 |
| GWAS Ctlg | rs780583917 |
| Max Magnitude | 4 |
rs780583917, also known as c.401C>A or p.T134N, is a SNP in the ALPL gene on chromosome 1.
Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the perinatal form of hypophosphatasia.
This SNP is referred to as i6006889 by 23andMe.
